Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: HRT012
MIFTS: 45

Heart Valve Disease

Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Heart Valve Disease

About this section

MalaCards integrated aliases for Heart Valve Disease:

Name: Heart Valve Disease 38 63 73
Abnormality of the Heart Valves 29 6
Heart Valve Diseases 43

External Ids:

UMLS 73 C0018824
Sources

Summaries for Heart Valve Disease

About this section
MedlinePlus : 43 Your heart has four valves. Normally, these valves open to let blood flow through or out of your heart, and then shut to keep it from flowing backward. But sometimes they don't work properly. If they don't, you could have Regurgitation - when blood leaks back through the valve in the wrong direction Mitral valve prolapse - when one of the valves, the mitral valve, has "floppy" flaps and doesn't close tightly. It's one of the most common heart valve conditions. Sometimes it causes regurgitation. Stenosis - when the valve doesn't open enough and blocks blood flow Valve problems can be present at birth or caused by infections, heart attacks, or heart disease or damage. The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. But many people have heart murmurs without having a problem. Heart tests can show if you have a heart valve disease. Some valve problems are minor and do not need treatment. Others might require medicine, medical procedures, or surgery to repair or replace the valve. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Heart Valve Disease, also known as abnormality of the heart valves, is related to cardiac valvular defect, developmental and coumarin resistance, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Heart Valve Disease is SMC1A (Structural Maintenance Of Chromosomes 1A), and among its related pathways/superpathways are CREB Pathway and Cell cycle. The drugs Amiodarone and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include Heart and Heart.

PubMed Health : 63 About heart valve disease: Heart valve disease occurs if one or more of your heart valves don't work well. The heart has four valves: the tricuspid (tri-CUSS-pid), pulmonary (PULL-mun-ary), mitral (MI-trul), and aortic (ay-OR-tik) valves.These valves have tissue flaps that open and close with each heartbeat. The flaps make sure blood flows in the right direction through your heart's four chambers and to the rest of your body.

Sources

Related Diseases for Heart Valve Disease

About this section

Diseases related to Heart Valve Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 cardiac valvular defect, developmental 11.6
2 coumarin resistance 10.8
3 dilated cardiomyopathy 10.8
4 rheumatic heart disease 10.8
5 sick sinus syndrome 10.8
6 systemic lupus erythematosus 10.0
7 lupus erythematosus 10.0
8 aging 9.8
9 pulmonary hypertension 9.8
10 antiphospholipid syndrome 9.8
11 rheumatoid arthritis 9.6
12 patent ductus arteriosus 1 9.6
13 aortic valve disease 2 9.6
14 hyperprolactinemia 9.6
15 arthritis 9.6
16 infective endocarditis 9.6
17 endocarditis 9.6
18 acromegaly 9.6
19 aortic valve insufficiency 9.6
20 periodontitis 9.6
21 type i 9.6
22 migraine with or without aura 1 9.2 HTR2A HTR2B

Graphical network of the top 20 diseases related to Heart Valve Disease:



Diseases related to Heart Valve Disease
Sources

Symptoms & Phenotypes for Heart Valve Disease

About this section

UMLS symptoms related to Heart Valve Disease:


angina pectoris, chest pain, edema, undiagnosed heart murmur
Sources

Drugs & Therapeutics for Heart Valve Disease

About this section

PubMedHealth treatment related to Heart Valve Disease: 63

Currently, no medicines can cure heart valve disease. However, lifestyle changes and medicines often can successfully treat symptoms and delay problems for many years. Eventually, though, you may need surgery to repair or replace a faulty heart valve.The goals of treating heart valve disease might include:Preventing, treating, or relieving the symptoms of other related heart conditions.Protecting heart valves from further damage.Repairing or replacing faulty valves when they cause severe symptoms or become life threatening. Replacement valves can be man-made or biological.

Drugs for Heart Valve Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 392)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amiodarone Approved, Investigational Phase 4,Phase 3,Not Applicable 1951-25-3 2157
2
Warfarin Approved Phase 4,Phase 3,Phase 2,Not Applicable 81-81-2 6691 54678486
3
Desflurane Approved Phase 4,Not Applicable 57041-67-5 42113
4
Isoflurane Approved, Vet_approved Phase 4,Not Applicable 26675-46-7 3763
5
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 2078-54-8 4943
6
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
7
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
8
Captopril Approved Phase 4 62571-86-2 44093
9
Trandolapril Approved Phase 4 87679-37-6 5484727
10
Spironolactone Approved Phase 4,Not Applicable 1952-01-7, 52-01-7 5833
11
Sufentanil Approved, Investigational Phase 4,Phase 2,Not Applicable 56030-54-7 41693
12
Ketamine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 6740-88-1 3821
13
Remifentanil Approved Phase 4,Phase 2,Not Applicable 132875-61-7 60815
14
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
15
Midazolam Approved, Illicit Phase 4,Phase 2,Not Applicable 59467-70-8 4192
16
Dopamine Approved Phase 4,Phase 3,Not Applicable 51-61-6, 62-31-7 681
17
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
18
Candesartan cilexetil Approved Phase 4,Phase 3,Phase 2 145040-37-5 2540
19
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
20
Clopidogrel Approved Phase 4,Phase 3,Not Applicable,Early Phase 1 120202-66-6, 113665-84-2 60606
21
Ticagrelor Approved Phase 4,Phase 3,Early Phase 1 274693-27-5 9871419
22
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
23
Fluvastatin Approved Phase 4,Phase 2 93957-54-1 1548972
24
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
25
Metoprolol Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 37350-58-6, 51384-51-1 4171
26
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 113775-47-6 68602 5311068
27
Sevoflurane Approved, Vet_approved Phase 4,Phase 2,Early Phase 1 28523-86-6 5206
28
Etomidate Approved Phase 4,Phase 2 33125-97-2 36339 667484
29
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
30
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
31
Dobutamine Approved Phase 4 34368-04-2 36811
32
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
33
Norepinephrine Approved Phase 4 51-41-2 439260
34
Racepinephrine Approved Phase 4 329-65-7 838
35
Valsartan Approved, Investigational Phase 4,Phase 2,Phase 3 137862-53-4 60846
36
Tolvaptan Approved Phase 4 150683-30-0 216237
37
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
38
Cosyntropin Approved Phase 4 16960-16-0 16129617
39
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
40
Heparin Approved, Investigational Phase 4,Phase 3,Not Applicable,Early Phase 1 9005-49-6 772 46507594
41
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 1 616-91-1 12035
42
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
43
Adenosine Approved, Investigational Phase 4,Phase 1,Phase 2 58-61-7 60961
44
Regadenoson Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 313348-27-5 219024
45
Hydromorphone Approved, Illicit Phase 4,Phase 2 466-99-9 5284570
46
Morphine Approved, Investigational Phase 4,Phase 2,Not Applicable 57-27-2 5288826
47
Bupivacaine Approved, Investigational Phase 4,Phase 3,Not Applicable 2180-92-9, 38396-39-3 2474
48 Edoxaban Approved Phase 4 480449-70-5
49
Rivaroxaban Approved Phase 4,Phase 3,Phase 2 366789-02-8
50
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456

Interventional clinical trials:

(show top 50) (show all 1260)
# Name Status NCT ID Phase Drugs
1 The Pharmacogenetics of Optimal Warfarin Therapy in Chinese Patients After Heart Valve Replacement. Unknown status NCT02710747 Phase 4
2 The ABC Trial Does All-Blood Cardioplegia Prevent Blood Transfusion in Cardiac Surgery? A Single Centre Pilot Study Unknown status NCT01623193 Phase 4
3 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
4 Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis Patients Unknown status NCT01503671 Phase 4 Atorvastatin
5 Abrogation of Mitral Regurgitation Using the MitraClip System in High-Risk Patients Unsuitable for Surgery Unknown status NCT01431222 Phase 4
6 Surgical Treatment of Ischemic Mitral Regurgitation Unknown status NCT01368575 Phase 4
7 The Pacing vs No Pacing Study - PNP Study Unknown status NCT02498639 Phase 4
8 Desflurane-induced Myocardial Protection Unknown status NCT02019797 Phase 4 Desflurane
9 Effect of Ranolazine on Valvular Disease in Patients With Pacemakers Unknown status NCT01979965 Phase 4 Ranolazine (Active drug);Placebo
10 A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial) Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
11 Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study Unknown status NCT01275339 Phase 4 Tadalafil;Placebo
12 Physiological Response to Heliox21 and Air O2 Unknown status NCT01498432 Phase 4 Heliox21;Air O2
13 Acute Haemodynamic Effects of Treatment With Angiotensin Converting Enzyme (ACE)-Inhibitors in Patients With Symptomatic Aortic Stenosis Unknown status NCT00252317 Phase 4 Captopril and Trandolapril;Captopril Test Dose and Trandolapril
14 Pilot Study of Lovaza (Omega 3 Fatty Acids) to Improve Cardiac Antioxidant/Anti-inflammatory Profile Before Cardiac Surgery Unknown status NCT01046604 Phase 4 Lovaza group
15 Endothelial Progenitors in Aortic Stenosis: Association With Aortic Stenosis Progression and Severity Unknown status NCT02060071 Phase 4
16 Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure. Unknown status NCT00331656 Phase 4
17 Study of Administration Of Antithrombin in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4 antithrombin III
18 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
19 Immunonutrition and Thoracoabdominal Aorta Aneurysm Repair Unknown status NCT00339053 Phase 4 Immunonutrition ( Impact)
20 Effect of Propofol on Renal Injury in Patients Undergoing Valvular Heart Surgery Completed NCT01384643 Phase 4 Propofol
21 The Effects of Levosimendan on Haemodynamics in Patients Undergoing Elective Aortic Valve Replacement (AVR)Together With Coronary Artery Bypass Grafting (CABG) Surgery Completed NCT01210976 Phase 4 levosimendan;placebo
22 Effect of Combined Remote Ischemic Preconditioning and Postconditioning on Acute Pulmonary Injury in Patients Undergoing Valvular Heart Surgery Completed NCT01427621 Phase 4
23 A Randomized Clinical Trial of Metoprolol in Participants With Mitral Regurgitation. Completed NCT00166400 Phase 4 metoprolol succinate
24 Comparative Effects of Dexmedetomidine and Ketofol for Sedation in Patients Undergoing Trans-esophageal Echocardiography Completed NCT02867930 Phase 4 Dexmedetomidine;Ketofol(ketamine+propofol)
25 Sildenafil for Secondary Pulmonary Hypertension Due to Valvular Disease Completed NCT00862043 Phase 4 Sildenafil Citrate;Placebo
26 Effect of Anesthetics on CD39 and CD73 After Open-heart Surgery Completed NCT02136979 Phase 4 Propofol;Sevoflurane
27 Propofol Effects on Mitral Valve Annular Velocity Completed NCT01826149 Phase 4 Propofol 1.0mcg;Propofol 2.0mcg;Propofol 3.0mcg
28 Humanalbumin, Hydroxyethylstarch and Ringer Lactate During Cardiac Surgery Completed NCT01174719 Phase 4 volume replacement;Humanalbumin 5%;volume replacement
29 The Cortisol Levels During Cardiac Surgery. The Comparison Between Etomidate and Thiopentone Completed NCT01495949 Phase 4 etomidate;thiopentone
30 Randomized Isoflurane and Sevoflurane Comparison in Cardiac Surgery Completed NCT01477151 Phase 4 Volatile anesthetic
31 Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS) Completed NCT00371891 Phase 4
32 The Use of Paravertebral Block for Cardiac Surgery Completed NCT02180893 Phase 4
33 The Effects of Levosimendan During Mitral Valve Surgery Completed NCT01969071 Phase 4 Levosimendan;Dobutamine
34 Beating Versus Arrested Heart for Mitral Valve Replacement Completed NCT01641614 Phase 4
35 CG Future® Annuloplasty Ring/Band Clinical Trial Completed NCT01074671 Phase 4
36 Angiotensin-II Blockade in Mitral Regurgitation Completed NCT00587470 Phase 4 Candesartan;atacand;Placebo
37 Pharmacological Reduction of Functional, Ischemic Mitral REgurgitation Completed NCT02687932 Phase 4 LCZ696;Valsartan
38 The Safety and Efficacy of Tolvaptan for Patients With Tricuspid Regurgitation and Right Heart Failure After Left Heart Valves Replacement Completed NCT02644616 Phase 4 tolvaptan+torasemide;placebo+torasemide
39 Tricuspid Regurgitation Study Completed NCT01093001 Phase 4
40 EDWARDS INTUITY Valve System CADENCE-MIS Study Completed NCT02672553 Phase 4
41 Cerebral Embolic Load in Patients Undergoing Surgical Aortic Valve Replacement: A Comparison of the Conventional With the Minimized Extracorporeal Circulation Technique Using Transcranial Doppler Ultrasound Completed NCT02308566 Phase 4
42 Effect of Beta Blockade on Left Ventricular Remodeling and Function in Moderate to Severe Asymptomatic Aortic Regurgitation Completed NCT01157572 Phase 4 Metoprolol;Placebo
43 REST Study: Left Ventricular Regression European Study Completed NCT00256165 Phase 4
44 Effect of Non-invasive Ventilation (NIV) on Cerebral Oxygenation Completed NCT02454582 Phase 4
45 Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis Completed NCT01060020 Phase 4 Sildenafil
46 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
47 Effects of Remifentanil on Respiratory Function in Mechanically Ventilated Patients Completed NCT00665119 Phase 4 remifentanil;placebo
48 B-type Natriuretic Peptide (BNP)-Guided Diagnostic Strategy in Intensive Care Unit (ICU) Patients With Respiratory Failure Completed NCT00130559 Phase 4
49 Ranolazine for the Treatment of Chest Pain in HCM Patients Completed NCT01721967 Phase 4 Ranolazine
50 Effect of Etomidate on Hemodynamics and Adrenocortical Function After Cardiac Surgery Completed NCT00415701 Phase 4 Etomidate;Propofol;Hydrocortisone;NaCl 0.9%

Search NIH Clinical Center for Heart Valve Disease

Sources

Genetic Tests for Heart Valve Disease

About this section

Genetic tests related to Heart Valve Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Heart Valves 29
Sources

Anatomical Context for Heart Valve Disease

About this section

MalaCards organs/tissues related to Heart Valve Disease:

41
Heart, Lung, Testes, Kidney, Endothelial, Brain, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Heart Valve Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Heart Atrioventricular Valves Atrioventricular Valve Cells Affected by disease
2 Heart Semilunar Valves Semilunar Valve Cells Affected by disease
Sources

Publications for Heart Valve Disease

About this section

Articles related to Heart Valve Disease:

(show top 50) (show all 119)
# Title Authors Year
1
Periodontal bacteria DNA findings in human cardiac tissue - Is there a link of periodontitis to heart valve disease? ( 29197463 )
2018
2
Antiphospholipid Antibodies and Heart Valve Disease in Systemic Lupus Erythematosus. ( 29549933 )
2018
3
Engineering a 3D-Bioprinted Model of Human Heart Valve Disease Using Nanoindentation-Based Biomechanics. ( 29751516 )
2018
4
Comorbid TNF-mediated heart valve disease and chronic polyarthritis share common mesenchymal cell-mediated aetiopathogenesis. ( 29475857 )
2018
5
The Right Heart-Pulmonary Circulation Unit and Left Heart Valve Disease. ( 29966640 )
2018
6
What's hot in heart valve disease 2018? ( 29334507 )
2018
7
Comprehensive microRNA profiling reveals potential augmentation of the IL1 pathway in rheumatic heart valve disease. ( 29548280 )
2018
8
Patient-Specific MRI-Based CFD for Optimizing Surgical Decision Making in Heart Valve Disease. ( 29667252 )
2018
9
Heart Valve Disease Awareness Survey 2017: what did we achieve since 2015? ( 29943272 )
2018
10
Clinical information has low sensitivity for postmortem diagnosis of heart valve disease. ( 28183793 )
2017
11
Standardization of adult transthoracic echocardiography reporting in agreement with recent chamber quantification, diastolic function, and heart valve disease recommendations: an expert consensus document of the European Association of Cardiovascular Imaging. ( 29045589 )
2017
12
Autoantibodies to types I and IV collagen and heart valve disease in systemic lupus erythematosus/antiphospholipid syndrome. ( 28283766 )
2017
13
What's hot in heart valve disease 2017? ( 28067716 )
2017
14
Appropriateness criteria for the use of cardiovascular imaging in heart valve disease in adults: a European Association of Cardiovascular Imaging report of literature review and current practice. ( 28586420 )
2017
15
Evaluating Health of Emerging Economies Through the Eyes of Heart Valve Disease inA theA Transcatheter Era. ( 28433490 )
2017
16
DNA methylation dysregulations in rheumatic heart valve disease. ( 28623907 )
2017
17
Cardiovascular magnetic resonance in the evaluation of heart valve disease. ( 29284450 )
2017
18
Selection of the Best of 2016 in Echocardiography in Heart Valve Disease. ( 28254138 )
2017
19
Regulation of valve interstitial cell homeostasis by mechanical deformation: implications for heart valve disease and surgical repair. ( 29046338 )
2017
20
Pregnancy and native heart valve disease. ( 27390366 )
2016
21
Detecting heart valve disease: can we do better? ( 26917654 )
2016
22
OS 01-07 CLINICAL IMPORTANCE OF COLLAGEN METABOLISM MARKERS IN RHEUMATIC HEART VALVE DISEASE IN INDIAN SUBPOPULATION. ( 27753898 )
2016
23
Prof. David S. Bach: heart valve disease. ( 27054110 )
2016
24
Multimodality imaging in heart valve disease. ( 26977308 )
2016
25
Changing causes of heart valve disease mortality in New Zealand from 1988 to 2007. ( 26914193 )
2016
26
Heart valve disease: looking back and moving forward. ( 26841326 )
2016
27
Heart valve disease in elderly Chinese population: effect of advanced age and comorbidities on treatment decision-making and outcomes. ( 27605940 )
2016
28
Aortic valve stenosis: what do people know? A heart valve disease awareness survey of over 8,800 people aged 60 or over. ( 27283409 )
2016
29
OS 01-07 CLINICAL IMPORTANCE OF COLLAGEN METABOLISM MARKERS IN RHEUMATIC HEART VALVE DISEASE IN INDIAN SUBPOPULATION. ( 27643244 )
2016
30
Methylphenidate: pulmonary hypertension and heart valve disease. ( 26436168 )
2015
31
The modern epidemiology of heart valve disease. ( 26541169 )
2015
32
Carcinoid Heart Valve Disease: Transcatheter Pulmonary Valve-In-Valve Implantation in Failing Biological Xenografts. ( 26182628 )
2015
33
Tricuspid Annuloplasty for Tricuspid Regurgitation Secondary to Left-Sided Heart Valve Disease: Immediate Outcomes and Risk Factors for Late Failure. ( 26777269 )
2015
34
Failing stentless Bioprostheses in patients with carcinoid heart valve disease. ( 25880286 )
2015
35
Automatic extraction of forward stroke volume using dynamic PET/CT: a dual-tracer and dual-scanner validation in patients with heart valve disease. ( 26501826 )
2015
36
Heart valve disease in general practice: a clinical overview. ( 25733443 )
2015
37
Aortic regurgitation and heart valve disease in mice. ( 26623080 )
2015
38
Spontaneous retrotransposon insertion into TNF 3'UTR causes heart valve disease and chronic polyarthritis. ( 26195802 )
2015
39
Deregulation of TNF expression can also cause heart valve disease. ( 26321488 )
2015
40
How should specialist competencies in heart valve disease be recognized? ( 25609702 )
2015
41
'Black box warning' on food and drug administration criteria for drug-induced heart valve disease? ( 25535216 )
2015
42
Heart valve disease: The role of calcidiol deficiency, elevated parathyroid hormone levels and oxidative stress in mitral and aortic valve insufficiency. ( 24192717 )
2014
43
Benfluorex: left heart valve disease very common. ( 24926516 )
2014
44
Multimodality imaging of heart valve disease. ( 24830387 )
2014
45
IgA Antiphospholipid Antibodies and Anti-Domain 1 of Beta 2 Glycoprotein 1 Antibodies are Associated with Livedo Reticularis and Heart Valve Disease in Antiphospholipid Syndrome. ( 25491686 )
2014
46
Animal models of organic heart valve disease. ( 22475840 )
2013
47
Assessing operative risk and benefit in elderly patients with heart valve disease. ( 23821400 )
2013
48
The 7th biennial meeting of the Society for Heart Valve Disease. ( 23610980 )
2013
49
Exposure to benfluorex: left heart valve disease very common. ( 23951595 )
2013
50
The Turkish registry of heart valve disease. ( 23518931 )
2013
Sources

Variations for Heart Valve Disease

About this section

ClinVar genetic disease variations for Heart Valve Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMC1A NM_006306.3(SMC1A): c.802_804delAAG (p.Lys268del) deletion Pathogenic rs727503773 GRCh37 Chromosome X, 53439900: 53439902
2 SMC1A NM_006306.3(SMC1A): c.802_804delAAG (p.Lys268del) deletion Pathogenic rs727503773 GRCh38 Chromosome X, 53412950: 53412952
Sources

Expression for Heart Valve Disease

About this section
Search GEO for disease gene expression data for Heart Valve Disease.
Sources

Pathways for Heart Valve Disease

About this section

Pathways related to Heart Valve Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
CREB Pathway 64
Show member pathways
 12.66 HTR2A HTR2B TGFB1
2
Cell cycle 1 37
11.79 SMC1A TGFB1
3
Calcium signaling pathway 37
Show member pathways
 11.64 HTR2A HTR2B
4
Monoamine GPCRs 1
Show member pathways
 11.38 HTR2A HTR2B
5
Serotonergic synapse 37
11.31 HTR2A HTR2B
6
Gap junction 37
11.1 HTR2A HTR2B
7
Mitotic Roles of Polo Like Kinases 64
10.68 SMC1A TGFB1
8
Serotonin Receptor 2 and ELK-SRF/GATA4 signaling 1
9.92 HTR2A HTR2B
Sources

GO Terms for Heart Valve Disease

About this section

Biological processes related to Heart Valve Disease according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.73 HTR2A HTR2B TGFB1
2 response to drug GO:0042493 9.67 HTR2A HTR2B TGFB1
3 heart development GO:0007507 9.6 HTR2B TGFB1
4 aging GO:0007568 9.59 HTR2A TGFB1
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.58 HTR2A TGFB1
6 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0007200 9.58 HTR2A HTR2B
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.58 HTR2A HTR2B TGFB1
8 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.57 HTR2A HTR2B
9 positive regulation of cell division GO:0051781 9.55 HTR2B TGFB1
10 release of sequestered calcium ion into cytosol GO:0051209 9.54 HTR2A HTR2B
11 response to radiation GO:0009314 9.52 SMC1A TGFB1
12 phosphatidylinositol 3-kinase signaling GO:0014065 9.51 HTR2A HTR2B
13 activation of phospholipase C activity GO:0007202 9.48 HTR2A HTR2B
14 G-protein coupled serotonin receptor signaling pathway GO:0098664 9.46 HTR2A HTR2B
15 smooth muscle contraction GO:0006939 9.43 HTR2A HTR2B
16 cellular calcium ion homeostasis GO:0006874 9.43 HTR2A HTR2B TGFB1
17 regulation of behavior GO:0050795 9.37 HTR2A HTR2B
18 behavior GO:0007610 9.32 HTR2A HTR2B
19 serotonin receptor signaling pathway GO:0007210 9.16 HTR2A HTR2B
20 positive regulation of phosphatidylinositol biosynthetic process GO:0010513 8.96 HTR2A HTR2B
21 positive regulation of MAP kinase activity GO:0043406 8.8 HTR2A HTR2B TGFB1

Molecular functions related to Heart Valve Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 drug binding GO:0008144 9.32 HTR2A HTR2B
2 neurotransmitter receptor activity GO:0030594 9.26 HTR2A HTR2B
3 G-protein coupled serotonin receptor activity GO:0004993 9.16 HTR2A HTR2B
4 G-protein alpha-subunit binding GO:0001965 8.96 HTR2A HTR2B
5 serotonin binding GO:0051378 8.62 HTR2A HTR2B
Sources

Sources for Heart Valve Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....